A pair of articles in Nature this week identify genetic mutations associated with schizophrenia. In the first, investigators led by Cardiff University's Michael O'Donovan performed exome sequencing using samples from 623 family trios and found that mutations in genes involved in synaptic processes are overrepresented in individuals with schizophrenia. Mutations in genes controlling proteins that interact with the fragile X mental retardation protein are also more frequent in schizophrenics compared with control individuals, as are mutations in genes that are also mutated in autism. In the second study, a team led by Icahn School of Medicine at Mount Sinai's Pamela Sklar analyzed exome sequences of more than 2,500 people with schizophrenia and a similar number of controls. They discovered rare mutations across a number of genes implicated in the disease, including ones related to calcium channels, synaptic machinery, and targets of the fragile X mental retardation protein.
GenomeWeb Daily News has more on these studies here.
Meanwhile, in Nature Genetics, scientists from Washington University School of Medicine report on the draft genome sequence of the human hookworm (Necator americanus), a soil-transmitted parasitic helminth. The team characterized genes involved in infection of and interaction with the human host, blood feeding and development. They also prioritized candidate genes for drug targets and new interventions, and conducted protein microarray screening in infected humans to identify antigens that are potential targets for anti-hookworm immune responses.
GWDN also covers the hookworm genome here.